MCID: HMC001
MIFTS: 32

Homocarnosinosis

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Homocarnosinosis

MalaCards integrated aliases for Homocarnosinosis:

Name: Homocarnosinosis 57 12 53 59 29 55 15 73
Homocarnosinase Deficiency 57 53 59 73

Characteristics:

Orphanet epidemiological data:

59
homocarnosinosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
homocarnosinosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 236130
Disease Ontology 12 DOID:0060177
Orphanet 59 ORPHA2168
MESH via Orphanet 45 C535328
ICD10 via Orphanet 34 E72.8
UMLS via Orphanet 74 C0268632 C3495554
MedGen 42 C0268632

Summaries for Homocarnosinosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2168Disease definitionHomocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Homocarnosinosis, also known as homocarnosinase deficiency, is related to carnosinemia and spasticity. An important gene associated with Homocarnosinosis is CNDP1 (Carnosine Dipeptidase 1), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Arginine and proline metabolism. Affiliated tissues include brain and skin, and related phenotypes are intellectual disability and dysarthria

Disease Ontology : 12 A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has material basis in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.

Description from OMIM: 236130

Related Diseases for Homocarnosinosis

Diseases related to Homocarnosinosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carnosinemia 11.0
2 spasticity 10.1
3 paraplegia 10.0
4 retinitis 9.9
5 gamma-amino butyric acid metabolism disorder 9.2 ABAT CNDP1

Graphical network of the top 20 diseases related to Homocarnosinosis:



Diseases related to Homocarnosinosis

Symptoms & Phenotypes for Homocarnosinosis

Symptoms via clinical synopsis from OMIM:

57
Neuro:
spastic paraplegia
mental retardation

Lab:
elevated homocarnosine
brain homocarnosinase deficiency
serum carnosinase deficiency

Eyes:
retinal pigmentation


Clinical features from OMIM:

236130

Human phenotypes related to Homocarnosinosis:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
4 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
5 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
6 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
7 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
8 abnormal social behavior 59 32 frequent (33%) Frequent (79-30%) HP:0012433
9 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
10 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
11 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
12 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
13 abnormality of the cerebrospinal fluid 59 32 hallmark (90%) Very frequent (99-80%) HP:0002921
14 carnosinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003167
15 pschomotor retardation 59 32 frequent (33%) Frequent (79-30%) HP:0025356
16 abnormality of circulating enzyme level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011021
17 abnormal fundus autofluorescence imaging 59 32 hallmark (90%) Very frequent (99-80%) HP:0030602
18 achilles tendon contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001771
19 scissor gait 59 32 frequent (33%) Frequent (79-30%) HP:0012407
20 tip-toe gait 59 32 frequent (33%) Frequent (79-30%) HP:0030051
21 gait disturbance 59 Frequent (79-30%)
22 behavioral abnormality 59 Frequent (79-30%)
23 abnormality of retinal pigmentation 32 HP:0007703
24 abnormality of skin pigmentation 32 HP:0001000
25 lower limb spasticity 59 Very frequent (99-80%)

Drugs & Therapeutics for Homocarnosinosis

Search Clinical Trials , NIH Clinical Center for Homocarnosinosis

Genetic Tests for Homocarnosinosis

Genetic tests related to Homocarnosinosis:

# Genetic test Affiliating Genes
1 Homocarnosinosis 29

Anatomical Context for Homocarnosinosis

MalaCards organs/tissues related to Homocarnosinosis:

41
Brain, Skin

Publications for Homocarnosinosis

Articles related to Homocarnosinosis:

(show all 11)
# Title Authors Year
1
Homocarnosinosis: A historical update and findings in the SPG11 gene. ( 29732542 )
2018
2
Homocarnosinosis patients and great apes have a serum protein that cross-reacts with human serum carnosinase. ( 1521330 )
1992
3
Homocarnosinosis: influence of dietary restriction of histidine. ( 3736769 )
1986
4
Homocarnosinosis. Symposium in honor of James F. Lenney. ( 3891935 )
1985
5
Carnosinase and homocarnosinosis. ( 3891936 )
1985
6
Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine. ( 6616870 )
1983
7
Homocarnosinosis: hypercarnosinuria. ( 7108529 )
1982
8
Homocarnosinosis: increased content of homocarnosine and deficiency of homocarnosinase in brain. ( 448356 )
1979
9
Homocarnosinosis. 3. Spinal fluid amino acids in familial spastic paraplegia. ( 842287 )
1977
10
Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation. ( 1266573 )
1976
11
Letter: Homocarnosinosis: a new metabolic disorder associated with spasticity and mental retardation. ( 4138320 )
1974

Variations for Homocarnosinosis

Expression for Homocarnosinosis

Search GEO for disease gene expression data for Homocarnosinosis.

Pathways for Homocarnosinosis

GO Terms for Homocarnosinosis

Cellular components related to Homocarnosinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 ABAT ALDH7A1

Sources for Homocarnosinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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